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Article

GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.

Molecular genetics and metabolism - 1 Aug 2008

Brunetti-Pierri Nicola, Scaglia Fernando

Abstract excerpt

GM(1) gangliosidosis is a lysosomal storage disorder due to deficiency of the beta-galactosidase enzyme. This deficiency results in accumulation of GM(1) gangliosides and related glycoconjugates in the lysosomes leading to lysosomal swelling, cellular damage, and organ dysfunction. The disease is lethal in the infantile and juvenile forms. To date, up to 102 mutations distributed along the beta-galactosidase gene...

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Source

Identifiers

PMID: 18524657
DOI: 10.1016/j.ymgme.2008.04.012

Genes

GLB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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